3mc syndrome 1

Preferred Label : 3mc syndrome 1;

Symbol : 3MC1;

CISMeF acronym : 3MC1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Craniosynostosis with lid anomalies; Michels syndrome; Oculopalatoskeletal syndrome;

Description : The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by Rooryck et al., 2011). - Genetic Heterogeneity of 3MC Syndrome 3MC syndrome-2 (3MC2; 265050) is caused by mutation in the COLEC11 gene (612502). See also 3MC syndrome-3 (248340).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the mannan-binding lectin serine protease-1 gene (MASP1, 600521.0001);

Prefixed ID : #257920;

Details

Origin ID

257920;

UMLS CUI

C0796059;

CISMeF manual mappings
- 3MC syndrome 1 [DO Concept]
Currated CISMeF NLP mapping
- Michels syndrome [ORDO Disease]
- Oculopalatoskeletal syndrome [MeSH concept]
- oculopalatoskeletal syndrome [MeSH Supplementary Concept]
DO Cross reference
- 3MC syndrome 1 [DO Concept]
Genes related to phenotype
- Mannan-binding lectin serine protease 1 [OMIM gene]
HPO term(s)
- Abnormal anterior chamber morphology [HPO term]
- Abnormality of eye movement [HPO term]
- Abnormality of the abdominal wall [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blepharophimosis [HPO term]
- Broad foot [HPO term]
- Caudal appendage [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Conductive hearing impairment [HPO term]
- Conjunctival telangiectasia [HPO term]
- Coronal craniosynostosis [HPO term]
- Craniosynostosis, coronal and lambdoidal [HPO term]
- Dental crowding [HPO term]
- Epicanthus inversus [HPO term]
- Fifth finger single interphalangeal crease [HPO term]
- Glaucoma [HPO term]
- Growth delay [HPO term]
- Highly arched eyebrow [HPO term]
- Hydronephrosis [HPO term]
- Hypertelorism [HPO term]
- Intellectual disability, mild [HPO term]
- Lambdoidal craniosynostosis [HPO term]
- Microcephaly [HPO term]
- Omphalocele [HPO term]
- Patent ductus arteriosus [HPO term]
- Postnatal growth retardation [HPO term]
- Ptosis [HPO term]
- Radioulnar synostosis [HPO term]
- Sacral dimple [HPO term]
- Shallow orbital ridges [HPO term]
- Short 5th finger [HPO term]
- Short foot [HPO term]
- Single interphalangeal crease of fifth finger [HPO term]
- Skull asymmetry [HPO term]
- Spina bifida occulta [HPO term]
- Supernumerary nipple [HPO term]
- Underdeveloped supraorbital ridges [HPO term]
- Ventricular septal defect [HPO term]
- Wide anterior fontanel [HPO term]
ORDO concept(s)
- 3MC syndrome [ORDO Disease]
- Michels syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 3MC syndrome 1 [DO Concept]
- Michels syndrome [ORDO Disease]
- Oculopalatoskeletal syndrome [MeSH concept]
- oculopalatoskeletal syndrome [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- 3MC syndrome [ORDO Disease]
- 3MC syndrome [DO Concept]

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